Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts.
Arkush L, van Woerden GM, Ziv L, Marek-Yagel D, Fonseca R, Brevé E, Barel O, Shalva N, Veber A, Anikster Y, Ben-Ami Raichman D, Musallam B, Marcu S, Nissenkorn A, Mandel H, Kushner SA, Ben Zeev B, Heimer G.
Arkush L, et al.
Eur J Hum Genet. 2025 Oct;33(10):1271-1280. doi: 10.1038/s41431-025-01918-6. Epub 2025 Jul 31.
Eur J Hum Genet. 2025.
PMID: 40745490
Free PMC article.
Both were homozygous for a c.416T > C, p.(Leu139Pro) MED29 variant which was predicted to be pathogenic. Locomotion and cerebellar GABAergic neurons development were both impaired in MED29 Morpholino-knockdown zebrafish and rescued by human wild-type gene express …
Both were homozygous for a c.416T > C, p.(Leu139Pro) MED29 variant which was predicted to be pathogenic. Locomotion and cerebellar …